People with hemophilia A and B show normal results, as they lack factors VIII and IX, respectively.įibrinogen test: Fibrinogen is another name for clotting factor I. Prothrombin time test (PTT): This test measures how long it takes for blood to clot by assessing blood clotting factors I, II, V, VII, and X. The result of the APTT test shows a longer clotting time among people with hemophilia.
Hemoglobin levels are diagnosed through blood tests (CBC), as the count may be low if a person experiences unusually heavy or prolonged bleeds due to hemophilia.Īctivated Partial Thromboplastin Time (APTT) test: This test measures the clotting abilities of factors VIII, IX, XI, and XII in terms of the number of seconds it takes for a clot to form in a blood sample. In children, severe hemophilia can be identified during infancy. The diagnosis starts with examining complete medical and family history as hemophilia is an inherited condition. Pain, swelling or tightness in your joints.Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work.The signs and symptoms for both types of hemophilia are more or less similar. The pattern of inheritance and the percentage of risk can be understood from the image below: However, as carriers, women pass on the defective gene even when showing no disease symptoms. Since women inherit two X chromosomes and men inherit one, hemophilia tends to affect men frequently. So, hemophilia A and hemophilia B are X-linked recessive conditions. The genes F8 and F9 reside on the X chromosome. In India, more than 1.36 lakh individuals have hemophilia. The worldwide occurrence of hemophilia A is approximately 1 case per 5000. Hemophilia B (Christmas disease): This type is caused by a lack or decrease of clotting factor IX.Hemophilia A (Classic Hemophilia): This type is caused by a lack or decrease of clotting factor VIII.But, the following two are the most common: As a result, hemophilia causes prolonged bleeding or paniful swelling of the joints. The change or mutation in these genes can prevent clotting proteins from working correctly. They provide instructions for making clotting factor proteins needed for blood clotting. The mutation in F8 and F9(factor VIII and factor IX) genes causes hemophilia. However, the recent research says that there is currently no history of hemophilia in the British Monarch. It is believed that the disorder was carried to the following three generations within the British Royal family.
One of history’s most iconic queens, Queen Victoria, had a spontaneous mutation causing the blood disorder hemophilia. There is a reason Hemophilia is known as the Royal Disease.